目的：探讨全面性癫癎伴热性惊厥附加症（GEFS+）的临床表型及遗传规律。方法：首先对15个GEFS+家系的先证者进行详细的问诊及体格检查，建立完善的家系图谱，部分患者行EEG、头颅CT或MRI检查，按照国际分类法对癫癎发作和癫癎综合征进行分类，然后进行临床分析。结果：15个家系共196名成员，75例患有癫癎，其中64例表型与GEFS+一致（1例去世），男性38例，女性26例，性别差异无显著性（P>0.05）。发作起始年龄均在儿童期。表现为热性惊厥(FS)者44例，FS伴肌阵挛1例，热性惊厥附加症(FS+)者13例，FS+伴失神发作2例，FS+伴肌阵挛1例，FS+伴局灶性发作3例。结论：GEFS+具有表型异质性和遗传异质性，常见表型为FS和FS+，少见的表型为FS+伴失神发作、FS+伴肌阵挛发作、FS+伴局灶性发作等。GEFS+家系中父母一方患病，男女发病机率均等，符合常染色体显性遗传。［中国当代儿科杂志，2007，9（5）：436-440］

OBJECTIVE: To investigate the clinical phenotypes and hereditary patterns of the generalized epilepsy with febrile seizures plus (GEFS+). METHODS: Detailed family trees were constructed by inquire and physical examinations for the probands of the 15 pedigrees of GEFS+. Some patients received electroencephalography, cranial CT or MRI examination. The seizures and epilepsy syndromes were classified according to the 2001 Seizure International Classification. The clinical data of GEFS+ were reviewed. RESULTS: The 15 families consisted of 196 individuals. Seventy-five individuals were confirmed with epilepsy. The phenotypes of 64 out of the 75 patients with epilepsy conformed to GEFS+. The 64 patients included 38 males and 26 females (1 deceased) and there was no gender difference in the morbility of GEFS+. The age at onset was all in childhood. GEFS+ had a diversity of phenotypes. Febrile seizures (FS) were confirmed in 44 patients, FS and myoclonic seizure in 1, febrile seizures plus (FS+) in 13, FS+ and absence seizure in 2, FS+ and myoclonic seizure in 1, and FS+ and focal seizure in 3. CONCLUSIONS: The heterogeneity of phenotypes and genetics may be the hallmarks of GEFS+. FS and FS+ are common phenotypes while FS+ and absence seizure, FS+ and myoclonic seizure, and FS+ and focal seizure are rare. If one of the parents is affected in a GEFS+ family, the susceptibility of their children to GEFS+ is the same no matter what gender of their children is. It is speculated that the hereditary pattern of GEFS+ conforms to autosomal dominant inheritance.